Acta otorrinolaringologica espanola最新文献

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Hemangioma cavernoso en área de cabeza y cuello en adultos. Diagnóstico diferencial de masas cervicales y de glándula salival mayor 成人头颈部海绵状血管瘤。颈部和主要唾液腺肿块的鉴别诊断。
IF 0.9
Acta otorrinolaringologica espanola Pub Date : 2024-07-01 DOI: 10.1016/j.otorri.2023.12.002
María Cáceres Puerto , Miguel García Teno , Eulalia Porras Alonso , María Nieves Maira González
{"title":"Hemangioma cavernoso en área de cabeza y cuello en adultos. Diagnóstico diferencial de masas cervicales y de glándula salival mayor","authors":"María Cáceres Puerto , Miguel García Teno , Eulalia Porras Alonso , María Nieves Maira González","doi":"10.1016/j.otorri.2023.12.002","DOIUrl":"https://doi.org/10.1016/j.otorri.2023.12.002","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 4","pages":"Pages 265-267"},"PeriodicalIF":0.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141582172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current opinion on laryngeal electromyography 关于喉肌电图的最新观点
IF 1
Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI: 10.1016/j.otorri.2023.07.001
Rosa Delia Ramírez Ruiz , Mariam Quintillá , Marta Sandoval , Lucía León , Jose Miguel Costa , Miquel Quer
{"title":"Current opinion on laryngeal electromyography","authors":"Rosa Delia Ramírez Ruiz ,&nbsp;Mariam Quintillá ,&nbsp;Marta Sandoval ,&nbsp;Lucía León ,&nbsp;Jose Miguel Costa ,&nbsp;Miquel Quer","doi":"10.1016/j.otorri.2023.07.001","DOIUrl":"https://doi.org/10.1016/j.otorri.2023.07.001","url":null,"abstract":"<div><h3>Purpose</h3><p>This study evaluates expert opinion on laryngeal electromyography (LEMG).</p></div><div><h3>Methods</h3><p>A cross-sectional design was used to conduct an online survey of LEMG experts in 2021. They were questioned about the number LEMG performed annually, type of electrodes used, sector worked in, pain during the test, placement of the needle electrodes, interpretation of electrical muscle parameters, diagnosis of neuromuscular injury, prognostic sensitivity in vocal fold paralysis (VFP), laryngeal dystonia, tremor and synkinesis and quantifying LEMG.</p></div><div><h3>Results</h3><p>Thirty-seven professionals answered (23 Spanish and 14 from other countries), with a response rate of 21.56%. All physicians used LEMG. 91.9% had one- or two-years’ experience and 56.8% performed 10–40 LEMG per year. 70.3% were otolaryngologists and 27%, neurologists. In 89.1% of cases, a team of electrodiagnostic physician and otolaryngologist performed LEMG. 91.3% of Spanish respondents worked in Public Health, 7.14% of other nationalities; 37.8% in a university department. Bipolar concentric needles electrodes were used by 45.9% and monopolar concentric by 40.5%. 57% professionals considered good patients’ tolerance to the test. LEMG sensitivity was regarded as strong, median and interquartile range were 80.0 [60.0;90.0] to diagnose peripheral nerve injuries, less for other levels of lesions, and strong to evaluate prognosis, 70.0 [50.0;80.0]. Respondents believe locate the thyroarytenoid and the cricothyroid muscles with the needle, 80.0 [70.0;90.0], as opposed to 20.0 [0.00;60.0] the posterior cricoarytenoid. The interpretation of the electrical parts of the LEMG was strong, 80.0 [60.0;90.0]. LEMG identify movements disorders, 60.0 [20.0;80.0], and synkinesis, 70.0 [30.0;80.0]. The professionals prefer quantitative LEMG, 90.0 [60.0;90.0].</p></div><div><h3>Conclusions</h3><p>The experts surveyed consider LEMG that is well tolerated by patients. The insertional and spontaneous activity, recruitment and waveform morphology can be assessed easily. LEMG is mainly useful in the study of peripheral nerve injuries, and its value in VFP prognosis is considered strong.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 148-154"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140910269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Resultados del tratamiento quirúrgico de las metástasis ganglionares en pacientes con carcinomas escamosos cutáneos de cabeza y cuello 头颈部皮肤鳞状细胞癌患者淋巴结转移的手术治疗效果。
IF 1
Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI: 10.1016/j.otorri.2023.07.007
Xavier León , Susana López , María Pérez , Cristina Valero , Anna Holgado , Miquel Quer , Carmen Vega
{"title":"Resultados del tratamiento quirúrgico de las metástasis ganglionares en pacientes con carcinomas escamosos cutáneos de cabeza y cuello","authors":"Xavier León ,&nbsp;Susana López ,&nbsp;María Pérez ,&nbsp;Cristina Valero ,&nbsp;Anna Holgado ,&nbsp;Miquel Quer ,&nbsp;Carmen Vega","doi":"10.1016/j.otorri.2023.07.007","DOIUrl":"10.1016/j.otorri.2023.07.007","url":null,"abstract":"<div><h3>Introduction</h3><p>Out of all cutaneous squamous cell carcinomas originating in the head and neck (HNCSCC), 2%-4% are associated with parotid or cervical lymph node metastasis. The aim of this study is to analyse the prognostic factors of patients with HNCSCC with lymph node involvement treated surgically. Additionally, we aim to compare the prognostic capacity of the classification of these patients according to the 8th edition of the TNM, and an alternative classification proposed by O’Brien et al.</p></div><div><h3>Patients and methods</h3><p>Retrospective review of 65 patients with HNCSCC with lymph node metastasis treated surgically during the period 2000-2020.</p></div><div><h3>Results</h3><p>During the study period we carried out 13 neck dissections and 52 parotidectomies +<!--> <!-->neck dissection in patients with lymph node metastases from a HNCSCC. The great majority of patients (89.2%) received post-operative radiotherapy. The 5<!--> <!-->year disease-specific survival was 69.9%, and the overall survival it was 42.8%. The classification proposed by O’Brien et al., based on the parotid or cervical location of the lymph node metastases, and the size and number of the metastatic lymph nodes, had a better prognostic capacity than the TNM classification.</p></div><div><h3>Conclusions</h3><p>The surgical treatment of lymph node metastases in patients with HNCSCC achieved a high disease control. The classification based on the location, size and number of lymph node metastases proposed by O’Brien et al. had better prognostic capacity than the TNM classification.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 169-176"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139298320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acueducto vestibular dilatado como causa de hipoacusia postneonatal 前庭导水管扩张是新生儿出生后听力受损的原因之一
IF 1
Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI: 10.1016/j.otorri.2023.10.001
Carmen Fernández-Cedrón , Paula Sánchez-Fernández , Maite Guntín-García , Isabel Sandoval-Menéndez , Justo Gómez-Martínez , Jose Luis Llorente-Pendás , Faustino Núñez-Batalla
{"title":"Acueducto vestibular dilatado como causa de hipoacusia postneonatal","authors":"Carmen Fernández-Cedrón ,&nbsp;Paula Sánchez-Fernández ,&nbsp;Maite Guntín-García ,&nbsp;Isabel Sandoval-Menéndez ,&nbsp;Justo Gómez-Martínez ,&nbsp;Jose Luis Llorente-Pendás ,&nbsp;Faustino Núñez-Batalla","doi":"10.1016/j.otorri.2023.10.001","DOIUrl":"10.1016/j.otorri.2023.10.001","url":null,"abstract":"<div><h3>Introduction</h3><p>The enlarged vestibular aqueduct (EVA) is the most frequent malformation of the inner ear associated with sensorineural hearing loss (5-15%). It exists when the diameter in imaging tests is greater than 1.5<!--> <!-->mm at its midpoint. The association between hearing loss and EVA has been described in a syndromic and non-syndromic manner. It can appear as a familial or isolated form and the audiological profile is highly variable. The gene responsible for sensorineural hearing loss associated with EVA is located in the same region described for Pendred syndrome, where the <em>SCL26A4</em> gene is located.</p></div><div><h3>Objective</h3><p>To describe a series of children diagnosed with EVA in order to study their clinical and audiological characteristics, as well as the associated genetic and vestibular alterations.</p></div><div><h3>Method</h3><p>Retrospective study of data collection of children diagnosed with EVA, from April 2014 to February 2023.</p></div><div><h3>Results</h3><p>Of the 17 cases, 12 were male and five were female. Five of them were unilateral and 12 bilateral. In five cases, a cranial traumatism triggered the hearing loss. Genetic alterations were detected in three cases: two mutations in the <em>SCL26A4</em> gene and one mutation in the MCT1 gene. Thirteen patients (76.5%) were rehabilitated with hearing aids and nine of them required cochlear implantation.</p></div><div><h3>Discussion</h3><p>The clinical importance of AVD lies in the fact that it is a frequent finding in the context of postneonatal hearing loss. It is convenient to have a high suspicion to diagnose it with imaging tests, to monitor its evolution, and to rehabilitate early.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 177-184"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139196123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efecto del tratamiento antihipertensivo en la calidad de vida de los pacientes con rinosinusitis crónica con pólipos nasales 降压治疗对患有鼻息肉的慢性鼻炎患者生活质量的影响
IF 1
Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI: 10.1016/j.otorri.2023.08.001
Juan Maza-Solano , Carmen Palma-Martínez , Daniel Martín-Jiménez , Serafín Sánchez-Gómez , Ramón Moreno-Luna , Christian Calvo-Henriquez , Hugo Galera-Ruiz
{"title":"Efecto del tratamiento antihipertensivo en la calidad de vida de los pacientes con rinosinusitis crónica con pólipos nasales","authors":"Juan Maza-Solano ,&nbsp;Carmen Palma-Martínez ,&nbsp;Daniel Martín-Jiménez ,&nbsp;Serafín Sánchez-Gómez ,&nbsp;Ramón Moreno-Luna ,&nbsp;Christian Calvo-Henriquez ,&nbsp;Hugo Galera-Ruiz","doi":"10.1016/j.otorri.2023.08.001","DOIUrl":"10.1016/j.otorri.2023.08.001","url":null,"abstract":"<div><h3>Aim</h3><p>Nasal polyposis (CRSwNP) shares type<!--> <!-->2 inflammation biomarkers with asthma, allergy or arterial hypertension (AH), including periostin, a predictive marker of severity and post-surgical recurrence of polyposis. Antihypertensives have been shown to decrease periostin expression. We set out to evaluate the effect of antihypertensives on the quality of life of patients with CRSwNP.</p></div><div><h3>Materials and methods</h3><p>Retrospective study of 43 patients with CRSwNP and AH with at least 1<!--> <!-->year of follow-up and antihypertensive treatment prescribed after the diagnosis of CRSwNP. Phenotypes were analyzed (F1: isolated CRSwNP; F2: CRSwNP with asthma and/or NERD) and aspects related to quality of life (SNOT-22), clinical severity (VAS), polypoid size (NPS), exacerbations and surgical needs after the initiation of antihypertensive treatment.</p></div><div><h3>Results</h3><p>The predominant phenotype was F1 (62.8%). The number of exacerbations was 19.2% for F1, compared to 31.3% for F2. 34.8% underwent surgery after the start of antihypertensive treatment (F1<!--> <!-->=<!--> <!-->27.9% and F2<!--> <!-->=<!--> <!-->6.97%). A significant reduction in polypoid size, SNOT22 (16.4<!--> <!-->±<!--> <!-->19.6 points), and VAS scales (<em>P</em> <!-->&lt;<!--> <!-->.05) was obtained.</p></div><div><h3>Conclusions</h3><p>Antihypertensives administered in patients with CRSwNP and comorbid AH improve quality of life, reduce polypoid size, and reduce the risk of postoperative recurrence.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 155-161"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139297293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thyroid chondroma, a case report 甲状腺软骨瘤,病例报告
IF 1
Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI: 10.1016/j.otorri.2023.07.004
Juan David Gutiérrez Posso, Francisco Javier Santaolalla Sanchez, Jon Sagazola Odriozola, Aitor Zabala Lopez de Maturana
{"title":"Thyroid chondroma, a case report","authors":"Juan David Gutiérrez Posso,&nbsp;Francisco Javier Santaolalla Sanchez,&nbsp;Jon Sagazola Odriozola,&nbsp;Aitor Zabala Lopez de Maturana","doi":"10.1016/j.otorri.2023.07.004","DOIUrl":"https://doi.org/10.1016/j.otorri.2023.07.004","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 197-199"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140910267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Experiencia clínica con el implante coclear Nurotron™ en una población postlingual hispanohablante: seguridad clínica y resultados audiólogicos Nurotron™ 人工耳蜗在西班牙语后语言人群中的临床经验:临床安全性和听力结果
IF 1
Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI: 10.1016/j.otorri.2023.06.004
Leonardo Elías Ordóñez Ordóñez , Esther Sofía Angulo Martínez , Silvia Carolina Vanegas , Silvia Raquel Rodríguez Montoya
{"title":"Experiencia clínica con el implante coclear Nurotron™ en una población postlingual hispanohablante: seguridad clínica y resultados audiólogicos","authors":"Leonardo Elías Ordóñez Ordóñez ,&nbsp;Esther Sofía Angulo Martínez ,&nbsp;Silvia Carolina Vanegas ,&nbsp;Silvia Raquel Rodríguez Montoya","doi":"10.1016/j.otorri.2023.06.004","DOIUrl":"https://doi.org/10.1016/j.otorri.2023.06.004","url":null,"abstract":"<div><h3>Objective</h3><p>to assess clinical safety and postoperative audiological outcomes in postlingual deafness Spanish speaking patients, who underwent surgery with Nurotron<strong>™</strong> cochlear implant.</p></div><div><h3>Material and Methods</h3><p>Retrospective descriptive case series study. We performed follow-up of complications and audiological measurements before and after cochlear implantation. Patients with bilateral severe to profound sensorineural hearing loss or patients with unilateral deafness with/without tinnitus were included. Repeated-measures within-subjects for assess pure tone thresholds and speech performance (bilingual test) with a detailed monitoring to establish security or adverse effects were performed. Analysis of variance tests, repetitive measures, were used for statistical analysis.</p></div><div><h3>Results</h3><p>31 patients were included, 17 (54.8%) men and 14 (45.2%) women. Mean age at the time of surgery was 49.82 ± 18.8 years. The mean follow-up of the group was 31.56 ± 9.57 months (minimum = 19.6 months and maximum = 52.50months). As major complication one patient (3.23%) had a hard failure that required removal and re-implantation. 25.8% of the patients presented minor complications, the most frequent being vertigo/unsteadiness in 22.6%.</p><p>The mean of language discrimination (free field at 65 dB SPL) was 62.19% ± 16.66; being 69.82% ± 7.35 in the group of severe to profound bilateral sensorineural hearing loss. A statistically significant reduction was observed in patients with tinnitus, assessed using the visual analog scale, preoperative = 7.2 ± 1,6 vs postoperative (18 months postoperative) = 1.7 ± 1.3 (p &lt; 0.001).</p></div><div><h3>Conclusions</h3><p>The Nurotron™ cochlear implant shows satisfactory audiological results, in accordance with what has been reported in the literature. Minor complications were similar to previous studies, but the percentage of hard failure should continue to be observed, which was higher than other reports with comparable follow-up.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 137-147"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0001651923001085/pdfft?md5=7190e0c62c471c69300961032241c453&pid=1-s2.0-S0001651923001085-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140910268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Osteomas de conducto y promontorio. Hipoacusia bilateral 耳道和岬角骨瘤。双侧听力损失
IF 1
Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI: 10.1016/j.otorri.2023.10.009
Montserrat Asensi Díaz, Carlos Martín Oviedo, Miguel Ángel Arístegui Ruíz
{"title":"Osteomas de conducto y promontorio. Hipoacusia bilateral","authors":"Montserrat Asensi Díaz,&nbsp;Carlos Martín Oviedo,&nbsp;Miguel Ángel Arístegui Ruíz","doi":"10.1016/j.otorri.2023.10.009","DOIUrl":"10.1016/j.otorri.2023.10.009","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 202-203"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139019238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Respecto al proceso de adaptación y validación al español del cuestionario específico de calidad de vida en pacientes con traqueostomía (TQOL) 关于气管造口术患者生活质量(TQOL)专项调查问卷的西班牙文改编和验证过程
IF 1
Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI: 10.1016/j.otorri.2023.10.007
Ángel Roco-Videla , Valeska Torres-Bustos
{"title":"Respecto al proceso de adaptación y validación al español del cuestionario específico de calidad de vida en pacientes con traqueostomía (TQOL)","authors":"Ángel Roco-Videla ,&nbsp;Valeska Torres-Bustos","doi":"10.1016/j.otorri.2023.10.007","DOIUrl":"10.1016/j.otorri.2023.10.007","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 200-201"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140463429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial 感音神经性听力损失成人基因检测的诊断率
IF 1
Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI: 10.1016/j.otorri.2023.10.003
Sara Reda del Barrio , Joaquín de Vergas Gutiérrez , Juan Francisco Quesada-Espinosa , María Teresa Sánchez-Calvín , Irene Gómez-Manjón , Olalla Sierra-Tomillo , Alexandra Juárez-Rufián , Alfredo García Fernández
{"title":"Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial","authors":"Sara Reda del Barrio ,&nbsp;Joaquín de Vergas Gutiérrez ,&nbsp;Juan Francisco Quesada-Espinosa ,&nbsp;María Teresa Sánchez-Calvín ,&nbsp;Irene Gómez-Manjón ,&nbsp;Olalla Sierra-Tomillo ,&nbsp;Alexandra Juárez-Rufián ,&nbsp;Alfredo García Fernández","doi":"10.1016/j.otorri.2023.10.003","DOIUrl":"10.1016/j.otorri.2023.10.003","url":null,"abstract":"<div><h3>Introduction</h3><p>The contribution of genetic causes to sensorineural hearing loss (SNHL) in adults is less clear than in children, and genetic diagnosis is still not standardized in adults. In this study we present the genetic results obtained in a cohort of adult patients with SNHL.</p></div><div><h3>Materials and method</h3><p>We included 63 adults with SNHL that received genetic testing between 2019 and 2022. Whole exome sequencing was performed and variants in genes related to hearing loss (virtual panel with 244 genes) were prioritized and analyzed.</p></div><div><h3>Results</h3><p>Twenty-four percent (15/63) of patients were genetically diagnosed: 87% (13/15) of patients had non-syndromic hearing loss and 13% (2/15) had syndromic hearing loss. We identified pathogenic and likely pathogenic variants in 11 different genes.</p></div><div><h3>Conclusions</h3><p>Our results show that a significant proportion of adults with SNHL have a genetic origin, and that implementation of genetic testing improves diagnostic accuracy and allows personalized management of these patients.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 185-191"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138987078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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